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miR-137 及其靶基因 TCF4 和 CACNA1C 的遗传多态性与双相情感障碍的风险相关：一项初步的病例对照研究和生物信息学分析。

Genetic Polymorphisms in miR-137 and Its Target Genes, TCF4 and CACNA1C, Contribute to the Risk of Bipolar Disorder: A Preliminary Case-Control Study and Bioinformatics Analysis.

机构信息

Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan 98167-43463, Iran.

Cellular and Molecular Research Center, Research Institute of Cellular and Molecular Sciences in Infectious Diseases, Zahedan University of Medical Sciences, Zahedan 98167-43463, Iran.

出版信息

Dis Markers. 2022 Sep 22;2022:1886658. doi: 10.1155/2022/1886658. eCollection 2022.

DOI:10.1155/2022/1886658
PMID:36193501
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9526595/
Abstract

Accumulating evidence has suggested that miR-137 and its target genes, CACNA1C, and TCF4, are amongst the most robustly implicated genes in psychiatric disorders. This preliminary study is aimed at investigating the effects of genetic variations in miR-137 (rs1625579A/C), TCF4 (rs1261084C/T), and CACNA1C (rs10774053A/G and rs10466907G/T) on BD susceptibility. We recruited 252 BD patients and 213 healthy subjects as the control group. Genotyping was performed using PCR-RFLP and ARMS-PCR methods. Enhanced risk of BD was found under the codominant homozygous, dominant, and allelic models of TCF4 rs1261084C/T, codominant homozygous and allelic models of CACNA1C rs10466907G/T polymorphisms, as well as codominant homozygous, dominant, recessive, and allelic models of the CACNA1C rs10774053A/G. Moreover, both TT/AG/GT/AA and TT/GG/GT/AC genotype combinations strongly increased the risk of BD in the participants. The bioinformatics analyses revealed that rs1261084C/T and rs10466907G/T created and disrupted binding sites of some miRNAs in the 3'-untranslated region of TCF4 and CACNA1C genes. In contrast, the rs10774053A/G created a new binding site for a major splicing factor and might have an effective role in the function of the CACNA1C protein. We have found that all the studied SNPs are positively associated with BD susceptibility. Replicated studies on different ethnicities are required to confirm these findings.

摘要

越来越多的证据表明，miR-137 及其靶基因 CACNA1C 和 TCF4 是精神疾病中最具关联性的基因之一。本初步研究旨在探讨 miR-137(rs1625579A/C)、TCF4(rs1261084C/T)和 CACNA1C(rs10774053A/G 和 rs10466907G/T)的遗传变异对 BD 易感性的影响。我们招募了 252 名 BD 患者和 213 名健康对照作为对照组。采用 PCR-RFLP 和 ARMS-PCR 方法进行基因分型。在 TCF4 rs1261084C/T 的共显性纯合子、显性和等位基因模型，CACNA1C rs10466907G/T 多态性的共显性纯合子和等位基因模型，以及 CACNA1C rs10774053A/G 的共显性纯合子、显性、隐性和等位基因模型下，均发现 BD 的风险增加。此外，TT/AG/GT/AA 和 TT/GG/GT/AC 基因型组合也强烈增加了参与者患 BD 的风险。生物信息学分析表明，rs1261084C/T 和 rs10466907G/T 在 TCF4 和 CACNA1C 基因的 3'-非翻译区创建并破坏了一些 miRNA 的结合位点。相反，rs10774053A/G 为主要剪接因子创建了一个新的结合位点，可能对 CACNA1C 蛋白的功能具有有效作用。我们发现所有研究的 SNP 均与 BD 易感性呈正相关。需要在不同种族中进行重复研究来证实这些发现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d22e/9526595/b9b20af23c6d/DM2022-1886658.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d22e/9526595/31e7f56fcc01/DM2022-1886658.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d22e/9526595/563c302e1586/DM2022-1886658.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d22e/9526595/ce804a17676f/DM2022-1886658.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d22e/9526595/b9b20af23c6d/DM2022-1886658.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d22e/9526595/31e7f56fcc01/DM2022-1886658.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d22e/9526595/563c302e1586/DM2022-1886658.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d22e/9526595/ce804a17676f/DM2022-1886658.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d22e/9526595/b9b20af23c6d/DM2022-1886658.004.jpg

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